Mutations in GPR143 (Xp22.2) have been identified in this form of nystagmus. The family pedigrees are consistent with X-linked recessive inheritance.
Two additional X-linked isolated nystagmus conditions are contained in this database: nystagmus 1 (310700), the result of mutations in FRMD7, and nystagmus 5 (300589) of unknown gene causation.
Several autosomal dominant forms have been linked to chromosomal regions 6p12 (NYS2; 164100), 7p11 (NYS3, 608345), 13q (NYS4, 193003), 1q31.3-q32.1, and NYS7 (614826). Autosomal recessive inheritance has been proposed for several pedigrees but adequate documentation is lacking (see 257400).
Ocular albinism (OA1) (300500) can also result from mutations in GPR143. However, there was no evidence of ocular or systemic hypopigmentation in the Chinese families.